Entrez gene ID | | 22 |
Official gene symbol | | ABCB7 |
Full name | | ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
Aliases | | ,ABC7,ASAT,Atm1p,EST140535, |
Gene summary | | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq12-q13 |
Gene position | | 74376132 - 74273105 Map Viewer |
Gene orientation | | minus |
Gene size | | 103028 bp |
Gene sequence |
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OMIM ID | | 300135 |
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